A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971769



Internal ID48532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103155327..103274224hg38UCSC Ensembl
chr5:102491031..102609925hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38118898
hg19118895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454830
Supporting Variants
Samples
Known GenesC5orf30, PPIP5K2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971769
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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